Abstract
Investigators at University of Washington, Seattle, University of Southern California, and Children’s Hospital Los Angeles evaluated neuroimaging findings in 42 patients (17 female, 25 male; age range, 2 days to 44 years) with rhombencephalosynapsis (RES).
Highlights
Severity of RES correlates with fusion of the tonsils, midbrain abnormalities including aqueductal stenosis and midline fusion of the tectum
In other patients with aqueductal stenosis at the U Washington, 9% were identified with RES
Subjects with more severe RES have more severe neurodevelopmental outcome
Summary
Investigators at University of Washington, Seattle, University of Southern California, and Children’s Hospital Los Angeles evaluated neuroimaging findings in 42 patients (17 female, 25 male; age range, 2 days to 44 years) with rhombencephalosynapsis (RES). RES is defined as a partial or complete absence of the cerebellar vermis and midline fusion of the cerebellar hemispheres. A spectrum of RES severity is proposed, ranging from mild (partial absence of nodulus and vermis), to moderate (absence of posterior vermis) to severe (absence of posterior and anterior vermis), to complete (absence of entire vermis including nodulus). Severity of RES correlates with fusion of the tonsils, midbrain abnormalities including aqueductal stenosis and midline fusion of the tectum.
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